SMAD4 D351H [cytosol]

Stable Identifier
R-HSA-3310965
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
Synonyms
SMAD4 Asp351His
SMAD4 D351H [cytosol] icon
Locations in the PathwayBrowser
Literature References
PubMed ID Title Journal Year
9214508 A structural basis for mutational inactivation of the tumour suppressor Smad4

Pavletich, NP, Lo, RS, Hata, A, Shi, Y, Massagué, J

Nature 1997
23139211 SMAD2, SMAD3 and SMAD4 mutations in colorectal cancer

Mouradov, D, Jorissen, RN, Jones, IT, Tsui, C, Palmieri, M, Sieber, OM, Ward, RL, Fleming, NI, Mariadason, JM, Sakthianandeswaren, A, Lipton, L, Moore, J, Ruszkiewicz, AR, Busam, D, Christie, M, McLaughlin, S, Gibbs, P, Zhu, HJ, Strausberg, RL, Day, F, Li, S, Burgess, AW, Hawkins, NJ, Desai, J, Zhao, Q

Cancer Res. 2013
External Reference Information
External Reference
Gene Names
SMAD4, DPC4, MADH4
Chain
chain:1-552
Reference Transcript
Other Identifiers
11725360_a_at
11725361_s_at
11725362_x_at
11725363_s_at
11744679_a_at
11750827_a_at
11753117_a_at
16852354
202526_PM_at
202526_at
202527_PM_s_at
202527_s_at
235725_PM_at
235725_at
36953_at
3788304
3788305
3788306
3788307
3788308
3788315
3788316
3788318
3788320
3788324
3788327
3788328
3788330
3788335
3788337
3788344
3788346
3788347
3788348
3788349
3788350
3788351
3788353
3788355
3788357
3788358
3788359
4089
46885_at
509_at
510_g_at
57902_at
58962_at
74813_at
8021228
A_14_P134632
A_19_P00323665
A_19_P00804817
A_19_P00812250
A_23_P27346
GE887174
GO:0000122
GO:0000785
GO:0000976
GO:0000977
GO:0000978
GO:0000981
GO:0001223
GO:0001228
GO:0001541
GO:0001649
GO:0001658
GO:0001666
GO:0001701
GO:0001702
GO:0001822
GO:0001837
GO:0003012
GO:0003148
GO:0003161
GO:0003190
GO:0003198
GO:0003220
GO:0003251
GO:0003279
GO:0003360
GO:0003677
GO:0003682
GO:0003700
GO:0005515
GO:0005518
GO:0005634
GO:0005654
GO:0005667
GO:0005694
GO:0005737
GO:0005813
GO:0005815
GO:0005829
GO:0005856
GO:0006351
GO:0006355
GO:0006357
GO:0006366
GO:0006879
GO:0007010
GO:0007179
GO:0007183
GO:0007283
GO:0007338
GO:0007369
GO:0007411
GO:0007492
GO:0007498
GO:0008092
GO:0008283
GO:0008285
GO:0008584
GO:0008585
GO:0009653
GO:0009952
GO:0010468
GO:0010614
GO:0010631
GO:0010666
GO:0010718
GO:0010862
GO:0012501
GO:0014033
GO:0017015
GO:0022414
GO:0023052
GO:0030154
GO:0030163
GO:0030308
GO:0030325
GO:0030509
GO:0030511
GO:0030513
GO:0031005
GO:0032444
GO:0032525
GO:0032909
GO:0032924
GO:0032991
GO:0033686
GO:0035556
GO:0036211
GO:0036302
GO:0042118
GO:0042127
GO:0042177
GO:0042733
GO:0042802
GO:0042803
GO:0043199
GO:0043226
GO:0043565
GO:0045892
GO:0045893
GO:0045944
GO:0046332
GO:0046872
GO:0046881
GO:0048382
GO:0048589
GO:0048663
GO:0048729
GO:0048733
GO:0048856
GO:0048859
GO:0048870
GO:0050886
GO:0051098
GO:0051571
GO:0051797
GO:0055065
GO:0060065
GO:0060391
GO:0060395
GO:0060412
GO:0060956
GO:0061040
GO:0061629
GO:0062009
GO:0065003
GO:0070102
GO:0070371
GO:0070373
GO:0070411
GO:0070412
GO:0071141
GO:0071144
GO:0071333
GO:0071559
GO:0071773
GO:0072133
GO:0072134
GO:0072520
GO:0090575
GO:0140110
GO:1901522
GO:1902895
GO:1905305
GO:2000617
HMNXSV003050274
Hs.50438.0.A1_3p_at
Hs.75862.0.S2_3p_at
ILMN_1741477
ILMN_1842785
PH_hs_0004380
TC18000998.hg
U44378_at
g4885456_3p_a_at
Participates
Other forms of this molecule
Modified Residues
Name
L-aspartic acid 351 replaced with L-histidine
Coordinate
351
PsiMod
A protein modification that effectively removes or replaces an L-aspartic acid.
A protein modification that effectively converts a source amino acid residue to an L-histidine.
Disease
Name Identifier Synonyms
lung cancer DOID:1324
ovarian cancer DOID:2394 ovarian neoplasm, malignant tumour of ovary, neoplasm of ovary (disorder), ovary neoplasm, primary malignant neoplasm of ovary and other uterine adnexa (disorder), ovarian cancer, tumor of the Ovary, ovary cancer, malignant Ovarian tumor, primary ovarian cancer, malignant tumor of ovary (disorder)
cancer DOID:162 malignant tumor, malignant neoplasm, primary cancer
pancreatic cancer DOID:1793 malignant neoplasm of tail of pancreas, pancreatic tumor, Ca body of pancreas, pancreas neoplasm, malignant neoplasm of body of pancreas, pancreatic neoplasm, malignant tumor of body of pancreas (disorder), Ca tail of pancreas (disorder), malignant neoplasm of head of pancreas, Ca tail of pancreas, malignant tumor of tail of pancreas (disorder), neoplasm of pancreas (disorder), Ca head of pancreas, Ca body of pancreas (disorder)
large intestine cancer DOID:5672 malignant Colorectal tumor, malignant neoplasm of large intestine, NOS, malignant tumor of large intestine (disorder), malignant neoplasm of colon with rectum, malignant neoplasm of large intestine NOS
Cross References
RefSeq
COSMIC
OpenTargets
GeneCards
PRO
Pharos - Targets
Orphanet
HMDB Protein
Interactors (36)
Accession #Entities Entities Confidence Score Evidence (IntAct)
 UniProt:P84022 SMAD3  20 0.98 35
 UniProt:Q15796 SMAD2  20 0.962 23
 UniProt:Q15797 SMAD1  4 0.946 12
 UniProt:P12755 SKI  1 0.91 13
 UniProt:P63279 UBE2I  9 0.835 6
 UniProt:P61968 LMO4      0.83 8
 UniProt:Q9NPI6 DCP1A  1 0.779 5
 UniProt:Q9UPN9 TRIM33  1 0.748 6
 UniProt:O15198 SMAD9  3 0.748 4
 UniProt:O43524 FOXO3  9 0.743 9
 UniProt:Q8WWW0 RASF5      0.742 5
 UniProt:Q9UBE8 NLK  3 0.719 6
 UniProt:P23769 GATA2  1 0.683 5
 UniProt:Q01844 EWS      0.668 3
 UniProt:P17676 CEBPB  3 0.609 2
 UniProt:Q92988 DLX4      0.602 5
 UniProt:P70398  1 0.602 4
 UniProt:P24468 NR2F2  1 0.591 4
 UniProt:O15198-2 SMAD9      0.556 3
 UniProt:P43268-3 ETV4      0.556 3
 UniProt:Q8NI38 IKBD      0.556 3
 UniProt:Q08117-2 TLE5      0.556 3
 UniProt:Q15915 ZIC1  1 0.556 3
 UniProt:P05067 APP  20 0.556 3
 UniProt:O75925 PIAS1  1 0.553 2
 UniProt:Q6VMQ6 ATF7IP  1 0.553 2
 UniProt:P12757 SKIL  1 0.547 3
 UniProt:Q13485 SMAD4  20 0.547 3
 UniProt:SMAD7 ENSG00000101665      0.527 3
 UniProt:Q9UI36 DACH1      0.524 3
 UniProt:Q9Y297 BTRC  2 0.524 2
 UniProt:P98177 FOXO4  8 0.524 2
 IntAct:EBI-11165649 P21      0.499 2
 UniProt:P70056 FOXH1      0.499 2
 UniProt:P03126 VE6      0.488 2
 UniProt:Q96F07 CYFIP2  1 0.488 2
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